• Clinical and Experimental Pediatrics
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• v.51 no.5
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• pp.546-550
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• 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals- like the mother of this case- who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels. A number of studies have now demonstrated considerable variability in blood vs. brain phenylalanine levels in phenylketonuria patients. Outcome of phenylketonuria appears to be related to brain phenylalanine levels. We report a case of "undiagnosed" maternal phenylketonuria syndrome. A female infant had low birth weight (2,400 g) with microcephaly. We examined her family and discovered that her mother was an undiagnosed phenylketonuria patient with a borderline intelligence quotient (IQ). The infant's sister, six years old, was diagnosed with phenylketonuria at the age of four years was mentally retarded and had received an operation for cleft lip and palate. the sister had also had a low birth weight (2,300 g). Her sister and mother were compound heterozygotes (mother: R243Q/Y325X; sister: Y325X/P407S). The infant and father were heterozygous carriers (baby: R243Q/ -; father: P407S/ - ).

• Women's Health Nursing
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• v.5 no.1
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• pp.80-95
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• 1999

The purpose of this study was to investigate the characteristics of low birth-weight infants and their's mothers, and to identify the factors which influenced to delivery of L.B.W infants. The data derived from K. General Hospital and J. obs & gyn clinic in pusan from January, 1998 to August, 1998, which were from mothers of having B. W infants. The factors used for this study were characteristics of general, obstetrical, environmental aspects and physical and psychological life experiences during pregnancy. Analysis of data obtained were computerized statistically by using SPSS 7.5 WIN program. the data were analysed as number, frequency, percentage, t-test and ANOVA. The major results obtained of this study were as follows : 1) Gender that L.B.W infants were male in 47.2% and female in 52.8%, body weight of 2001~2500gm was above 8 in 68.5%, and below 5 in 1.8%. The L.B.W infants with complications were 7, which were 6.5%. The kinds of malformations were the Cleft palate & lip, Hyper-kalemia, Hypoglycemia, Meningocele, CHD, Down syndrome and each of them marked 0.9%. 2) In the general characteristics of pregnant women, the age group of 25~29 years was the most common as 46.3%. Over 35 years of age, elderly gravidas were in 7.5%. the height of 156~160cm was the most common as 52.8%. pregnant women of below 150cm height was in 3.7%. body weight of 51~55kg was the most common as 38%. pregnant women of below 45kg were in 19.4%. The women with smoking and drinking episodes during pregnancy were 1.9% and 25%. In the status of marriage, married women were in 95.4%, unmarried ones were in 1.9%, and unmarried couples were in 2.8%. Iin he obstetrical characteristics of pregnant women, pregnant women with gestational age under 37wks were in 45.4%, and the ones over 38wks were 54.6%. At the methods of delivery, normal spontaneous vaginal deliveries were in 51.9%, which were the most common, cesarian section deliveries were in 47.2%, and breech deliveries were in 0.9%. In the environmental characteristics of pregnant women, 40.8% of pregnant women lived in house or apartments with stairs, 23.1% of them lived in the high altitude. the pregnant women who ran a household without a helper were in 65.7%. In the pregnant women who had underwent life experiences of physical and psychological stress during pregnancy. life experiences of physical stresses were described as persistent fatigue due to lifestyle, traumatic experience, illness, move away with an effort, physical impact caused by discord. life experiments of psychological stresses were describeded as trouble with their husbands, discord with one's husband family, family problems, and conflicts due to environmental factors, etc. The number of the pregnant women who had complications during pregnancy was 32, which was 29.6% totally. Among them, pre-eclampsia was in 12.1% and the premature rupture of membrane in 7.4%. 3) In the analysis of the general, obstetrical, and circumstantial characteristics and L.B.W infants. There were statistical difference significantly between the gestational age of pregnant women(F=12.035, P=.000), and the status of marriage(F=3.207, P=.044), and maternal complication(t=2.344, P=.021) etc.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.1-5
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• 2016

Robinow syndrome is skeletal dysplasia with both autosomal dominant and recessive inheritance patterns. It is characterized by short-limbed dwarfism, abnormalities in the head and face, as well as vertebral segmentation. A 2-year-7-month old boy with Robinow syndrome had visited Seoul National University Dental Hospital, for the evaluation of tooth palatal eruption on maxilla. He had micrognathia, delayed tooth eruption, cleft lip with bifid uvula. He also had an erupted mesiodens on the palatal side of maxillary primary incisors, which was tuberculated and 8mm in major diameter. The patient was scheduled for mesiodens extraction under general anesthesia. He was a young child with delayed development, so general anesthesia was inevitable. General anesthesia was induced and maintained with inhalation agent, Sevoflurane. There were no postoperative complications related to anesthesia and dental treatment. Robinow syndrome patients have craniofacial dysmorphism and eruption disorders. Therefore, he requires regular check-ups as well as dental managements.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Korean Journal of Veterinary Research
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• v.34 no.1
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• pp.165-172
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• 1994

DA-125 is a new anthracycline antitumor antibiotic, which is derived from adriamycin. The potential of DA-125 to induce embryotoxicity was evaluated in the Sprague-Dawley rats. One hundred twenty naturally mated SD rats(sperm in vaginal lavage=day 0) were distributed among three treated groups and a control group. DA-125 was administered intravenously at dose levels of 0. 0.1, 0.3 and 1.0mg/ kg/day. Dams were treated from day 7 to 17 of gestation and were subjected to the caesarean section on day 20. At 1 mg/kg, reduced food intake, reduced body weight and decreased weight of spleen were observed in dams. An increase in the resorption rate and a reduction in the fetal weight were also found. In addition, various types of external, visceral and skeletal malformations occurred at an incidence of 11.9, 41.8 and 14.5%, respectively. Characteristic malformations include exencephalia, gastroschisis, cleft lip, dilatation of lateral and 3rd ventricle, fused ribs, among others. There were no signs of maternal toxicity or embryotoxicity at 0.1 and 0.3mg/kg. The results show that the test agent DA-125 is embryotoxic at maternally subtoxic dose in rats.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.3
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• pp.374-380
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• 2010

Treacher Collins syndrome(TCS) is a rare, incurable condition occurring in approximately 1 of 25,000 to 50,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be manifested as an autosomal dominant pattern. TCS is characterized by facial deformities such as, underdevelopment of the maxilla, mandible and zygoma, malocclusion, bilateral deformities of auricles, antimongoloid slant of the palpebral fissures. The syndrome is often associated with cleft lip and palate, ear malformations and hearing loss, short stature, and anomalies of the heart and skeleton. Respiratory difficulty associated with air way obstruction may also be observed, and there is considerable difficulty in airway management during general anesthesia. It is necessary that dentists provide safe dental treatments and guidelines to TCS patients by providing adequate understanding about the characteristics of the syndrome and proper ways of managements. The purpose of this study is to report the dental and medical characteristics of the patient who visited the Department of Pediatric Dentistry, Yonsei University for multiple dental caries treatment and to review the literatures of TCS.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.1
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• pp.122-130
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• 2006

Congenital Missing Teeth(hypodontia, oligodontia) is the developmental absence of one or more teeth. It has been reported as being the most common anomaly of dental development in human, relatively common in the permanent dentition. In a recent review, Vastardis has quoted incidence ranges of $1.6%{\sim}9.6%$ in the permanent dentition. Brook has quoted a prevalence of $3.5%{\sim}6.5%$ in most populations, with severe hypodontia, defined as the absence of six or more teeth, having a prevalence of $0.3{\sim}0.4%$. The most commonly affected teeth are third molars, followed by maxillary lateral incisor, and second premolars. The etiology is unknown, several hypotheses include trauma, nutritional deficiency, infection, metabolic abnormalities, systemic disease and genetic influence. The multiple congenital missing is commonly associated with specific syndrome or severe systemic abnormalities such as cleft lip & palate and Down's syndrome. These cases present that children have multiple congenital missing teeth in the permanent dentition, without any systemic disease. Management of this condition must be considered orthodontic and prosthodontic treatment comprehensively. In these cases, children were treated by space maintainer or orthodontic appliance and follow-up checked.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.5
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• pp.559-566
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• 2007

Distraction osteogenesis(DO) is a surgical method of bone formation that involves an osteotomy and sequential stretching of the healing callus by gradual movement and subsequent remodeling. DO is used to correct facial asymmetry, such as in patients with hemifacial microsomia, maxillary or mandibular retrusion, cleft lip and palate, alveolar defects, and craniofacial deficiency. It is accomplished with the aid of a distraction device, which is secured with screws placed directly into bone, for a predetermined length of time. Hemifacial microsomia is characterized by unilateral facial hypoplasia, often with unilateral shortening of the mandible and subsequent malocclusion. Patients with hemifacial microsomia and facial asymmetry have a vertically short maxilla, tilted occlusal plane, and short mandible. Early treatment is necessary to avoid subsequent impaired midfacial growth. The standard treatment of these malformations consists of the application of bone grafts, which can lead to unpredictable growth. The new bone-lengthening procedure represents a limited surgical intervention and opens up a new perspective for treatment, especially in younger children with severe deformities. This report describes a case of hemifacial microsomia(Type-II left-sided hemifacial microsomia). The patient, a 10-year-old child, visited our clinic for facial asymmetry correction. He had a hypoplastic mandible, displaced ear lobe, 10 mm canting on the right side, and malocclusion. We planned DO to lengthen the left mandible in conjunction with a Le Fort I osteotomy for decanting and then perform a right intraoral vertical ramus osteotomy(IVRO). Progressive distraction at a rate of 0.5 mm/12 hours was initiated 7 days postoperatively. The duration of DO was 17 days. The consolidation period was 3 months. Satisfactory results were obtained in our case, indicating that DO can be used successfully for functional, aesthetic reconstruction of the mandible. We report a case involving DO in conjunction with orthognathic surgery for correcting mandibular hypoplasia with a review of the literature.

• Pediatric Infection and Vaccine
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• v.7 no.2
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• pp.233-239
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• 2000

Purpose : A great deal of youngsters suffer from otitis media, for which antimicrobials are frequently prescribed. Increased antimicrobial resistance forces physicians to judiciously use antimicrobial agents in treating patients with acute otitis media. There have however been few references with regard to otitis media in Korean children, and authors proceeded investigation to look for the causative agents of otitis media in Korean children and their antimicrobial susceptibility. Methods : The study included 65 patients younger than 15 years old who had been cared at the department of pediatrics and otolaryngology in Hanyang University Hospital from July 1994 to June 1999, and diagnosed of otitis media with otorrhea which contained microorganisms isolated in otorrhea culture. The medical records were reviewed for demographic data, isolated organisms and their antimicrobial susceptibility. Results : Among 65 patients, 37(57%) were boys and 28(43%) girls. Distribution of the patients was reciprocal to the age of the patients; 27 patients(41.5%) were younger than 1 year old, 24(36.9%) were 1 to 3 years old with the average of 2.9 years of age. Staphylococus aureus was isolated in 32 patients(49.2%), Streptococcus pneumoniae in 19 patients(29.2%) Haemophilus influenzae in 9 patients(13.8%), Streptococcus oralis in 3 patients(4.6%), Moraxella catarrhalis in 1 patient(1.5%). The isolated microorganisms were not different whether patients had cleft lip/palate or not. The antibiotic resistance rates of S. aureus were ${\geq}90%$ to erythromycin, imipenem, cephalothin, and clindamycin, 86.2% to oxacillin, 25% to chloramphenicol, 12.5% to trimethoprim/sulfamethoxazole(TMP/SMX), and 0% to vancomycin and teicoplanin. The antibiotic resistance rates of S. pneumoniae were 71.4% to penicillin and greater than 60% to erythromycin, tetracycline, TMP/SMX, 7.1% to chloramphenicol, and 0% to vancomycin and teicoplanin. The antibiotic resistance rates of H. influenzae were 55% to ampicillin and TMP/SMX, and 0% to chloramphenicol, ceftriaxone, aztreonam, imipenem and ciprofloxacin. Conclusion : With otorrhea culture, the causative organisms of otitis media appear to be S. aureus, S. pneumoniae and H. influenzae. The high antibiotic resistance rates of the isolated organisms should affect the choice of antibiotics in treating patients with otitis media. Prospective investigations utilizing tympanocentesis in microbiologic studies are needed.